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Background: Displaced intra-articular calcaneal fractures are a complication-ridden injury to treat and there are various treatment techniques to address this injury. The aim of this study was to evaluate the mid-term outcome of a percutaneous two-point distractor technique in patients with displaced intra-articular calcaneal fractures., Methods: A retrospective data analysis of patients with intra-articular calcaneal fractures treated in a level 1 trauma center was conducted. The patients were subsequently invited for a follow-up visit to assess the mid-term outcome. The Böhler's and Gissane's angles, the American Orthopaedic Foot & Ankle Society hindfoot score, the Maryland foot score and a visual analog scale for pain were measured preoperatively and postoperatively and after at least 6 years to assess the radiological and functional outcome., Results: Of the patients 59 completed the study with a mean follow-up of 76 months after surgery. The mean American Orthopedic Foot and Ankle Society hindfoot score at the last follow-up visit was 81, the mean Maryland foot score was 78. There were three cases (5%) of superficial wound complications and secondary arthrodesis of the subtalar joint was performed in five patients (8%)., Conclusion: The low rates of postoperative infections and secondary arthrodesis in this study underline the good to excellent mid-term functional results for a minimally invasive technique., Competing Interests: Conflict of interest: M. Stark, D. Popp, L. Schmoelz, K. Doering, K. Stark and A. Nia declare that they have no competing interests., (© 2024. The Author(s).)

Objective: The main objective of this study was to examine the relationship between mobility patterns during the coronavirus disease 2019 (COVID-19) pandemic and orthopedic trauma patients in Austria. Utilizing global positioning system (GPS)-based mobility data, the attempt was to assess both the impact of COVID-19 lockdowns on reducing orthopedic trauma patients and the degree of compliance to the imposed movement restrictions., Methods: This retrospective analysis included all patients (283,501) treated at 3 major level I trauma centers in Austria. Analyzed time periods were 1 January 2019 to 8 February 2021. Freely available GPS-based mobility data from Google and Apple Inc. was gathered., Results: A moderate to strong correlation between the cumulative average outpatients and the assessed mobility index was observed for all cities (Google: r = 0.70 p < 0.001, 95% confidence interval, CI: 0.67-0.73; Apple: r = 0.64 p < 0.001, 95% CI: 0.61-0.67). A significant linear regression equation was found for Vienna (adjusted r 2  = 0.48; F(1, 350) = 328,05; p < 0.01). During the first lockdown there was a drastic decline in mobility (up to -75.36%) and in numbers of orthopedic trauma outpatients (up to -64%, from 153 patients/day 2019 to 55 patients/day 2020) in comparison to the prepandemic era. The decline diminished as time passed., Conclusion: Analyses of GPS-based mobility patterns show a correlation with trauma patient numbers. These findings can be used to develop prediction models, leading to better resource planning and public health policy, enhancing patient care and cost-effectiveness, especially in the event of future pandemics. Furthermore, the results suggest that compliance to mobility restrictions decreased over time during the COVID-19 pandemic, resulting in increased mobility and trauma patients., (© 2024. The Author(s).)

Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive disease with a homozygous or compound-heterozygous mutation in the SLC19A2 gene characterized by megaloblastic anemia, diabetes mellitus (DM), and sensorineural hearing loss with onset in childhood. Folic acid and vitamin B12 in serum are normal with dysplastic erythropoiesis in the bone marrow often mimicking myelodysplastic neoplasms (MDS) as a potential differential diagnosis. Thiamine substitution leads to normalization of anemia, without effects on hearing loss or DM., Case Presentation: We report about a 38-year-old male patient, presented with a 12-year history of anemia, insulin dependent DM, optic neuropathy, and a cataract since early childhood. The laboratory showed megaloblastic anemia. Other values were normal. The bone marrow smear showed dysplastic erythropoiesis with megaloblastic changes, and normal findings in cytogenetic and molecular genetic examinations. Next-generation sequencing-based diagnostics revealed a heterozygous missense variant in the SLC19A2 gene on the maternal allele and a 3.4 Mb inversion in the chromosomal region 1q24.2 with breaking points in FAM78B and SLC19A2 on the paternal allele. Treatment with oral thiamine 100 mg daily was initiated, and 12 weeks later hemoglobin levels and bone marrow morphology had normalized., Conclusion: Late-onset TRMA should be considered in adult patients with indicative comorbidities and a typical phenotype, which may mimic features of MDS., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Background/objectives: To assess magnetic resonance image (MRI) findings in children and adolescents with atraumatic non-overload ankle pain and to identify potential anatomic risk factors., Methods: In total, 310 MRIs of 6- to 20-year-old patients were evaluated regarding detectable ankle pathologies. A total of 147 patients (68 males; 79 females) suffered from atraumatic non-overload ankle pain. The findings were compared to a control group (163 patients: 89 males; 74 females), including patients with ankle trauma in the 4 weeks prior to MRI examination. A t -test for unpaired samples and a binary logistic regression model were used to identify significant differences between both groups and determine potential anatomic risk factors., Results: In the group with atraumatic ankle pain, 95 patients (64.6%) showed at least one pathology. Anterolateral impingement of the upper ankle joint was found in 29 patients (19.7%). Its occurrence was significantly higher in atraumatic non-overload patients than in the control group ( p = 0.043). Moreover, a significant correlation between anterolateral impingement of the upper ankle and the presence of hindfoot valgus malposition ( n = 25; 17.0%) could be proven in atraumatic non-overload patients ( p = 0.035)., Conclusions: Anterolateral impingement of the upper ankle joint is frequently observed in children and adolescents suffering from atraumatic non-overload ankle pain, whereby a hindfoot valgus malposition seems to present an anatomic risk factor.

Background: The actual significance of prehospital immobilization of the cervical spine in severely injured trauma patients remains unclear. In view of possible negative implications, such as an increase in intracranial pressure due to the application of a rigid cervical spine orthosis, the long-term use must be critically questioned. Further studies are required to justify the long-term use of a rigid cervical spine orthosis in the prehospital setting., Objective: Comparative measurements of the mobility of the cervical spine during immobilization using a vacuum mattress with or without the additional application of a rigid cervical spine orthosis after positioning on the stretcher were carried out., Material and Methods: Biomechanical measurements of the movement of the cervical spine were carried out by attaching inertial measurement units to a test person during the loading and unloading process in a modern ambulance and during the journey along a predefined parkour. The test person on whom the measurements were carried out was immobilized on a vacuum mattress with the option of lateral fixation of the head and chin and forehead strap on an electrohydraulic stretcher. The complete standard monitoring was set up to simulate as realistic a transport of a severely injured patient as possible. A total of 30 test runs were realized. In one half of the tests, the cervical spine was additionally immobilized using a rigid orthosis and in the other half a cervical spine orthosis was not used. For each of the 30 tests, the angles, axial rotation, lateral bending and flexion/extension as well as the first and second derivatives were considered for loading, transport and unloading and the parameters mean deviation from the zero position, size of the swept angle range and maximum were calculated for each test run., Results: Statistically significant differences were only found for some biomechanical parameters in the sagittal plane (flexion and extension). No significant differences were found for the measured parameters in the other directions of movement (axial rotation, lateral flexion). In general, only very small angular deflections were measured both in the tests with the cervical spine orthosis and without the cervical spine orthosis (on average in the range of 1-2° for axial rotation and flexion/extension and up to 3° for lateral flexion)., Conclusion: If immobilization is carried out correctly using a vacuum mattress with the option of lateral stabilization of the head and chin and a forehead strap on an electrohydraulic stretcher with a loading system, there are no relevant advantages with respect to the restriction of movement of the cervical spine by the additional use of a rigid cervical spine orthosis for the loading and unloading process or during the transport in a modern ambulance. It could therefore be advantageous to remove the rigid cervical spine orthosis initially applied for the rescue of the patient at the scene after the patient has been positioned on the vacuum mattress and stretcher to avoid potential negative effects of the rigid cervical spine orthosis for the period of transportation to the hospital., (© 2024. The Author(s).)

Multidisciplinary team (MDT) meetings have emerged as a promising approach for the treatment of cancer patients. These meetings involve a team of healthcare professionals from different disciplines working together to develop a holistic, patient-centered treatment. Although MDT meetings are well established in oncology, they play a minor role in other diseases. Recent evidence suggests that the implementation of MDT meetings can improve patient outcomes in musculoskeletal infections. The aim of this retrospective, observational study was to present the agenda of our multidisciplinary limb board including live microscopy with a special focus on the pathologist's role. The descriptive analysis of the limb board included 66 cases receiving live microscopy at the meeting and a total of 124 histopathological findings and 181 stainings. We could elucidate that pathologists seem to play an important role especially in clarifying the correct diagnosis. In 80.3 % of the findings, the pathologist specified the clinical diagnosis of the requesting physician leading to a consensus-based treatment plan for each patient. The implementation of MDT meetings including live microscopy in patients with musculoskeletal infections holds potential benefits, such as improved communication, scientific collaboration, and raising clinicians' awareness and understanding of histopathology findings. However, potential challenges, such as organizational effort and technical prerequisites should be considered., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier GmbH.. All rights reserved.)

The introduction of three-dimensional (3D) printed anatomical models has garnered interest in pre-operative planning, especially in orthopedic and trauma surgery. Identifying potential error sources and quantifying their effect on the model dimensional accuracy are crucial for the applicability and reliability of such models. In this study, twenty radii were extracted from anatomic forearm specimens and subjected to osteotomy to simulate a defined fracture of the distal radius (Colles' fracture). Various factors, including two different computed tomography (CT) technologies (energy-integrating detector (EID) and photon-counting detector (PCD)), four different CT scanners, two scan protocols (i.e., routine and high dosage), two different scan orientations, as well as two segmentation algorithms were considered to determine their effect on 3D model accuracy. Ground truth was established using 3D reconstructions of surface scans of the physical specimens. Results indicated that all investigated variables significantly impacted the 3D model accuracy (p < 0.001). However, the mean absolute deviation fell within the range of 0.03 ± 0.20 to 0.32 ± 0.23 mm, well below the 0.5 mm threshold necessary for pre-operative planning. Intra- and inter-operator variability demonstrated fair to excellent agreement for 3D model accuracy, with an intra-class correlation (ICC) of 0.43 to 0.92. This systematic investigation displayed dimensional deviations in the magnitude of sub-voxel imaging resolution for all variables. Major pitfalls included missed or overestimated bone regions during the segmentation process, necessitating additional manual editing of 3D models. In conclusion, this study demonstrates that 3D bone fracture models can be obtained with clinical routine scanners and scan protocols, utilizing a simple global segmentation threshold, thereby providing an accurate and reliable tool for pre-operative planning., (© 2024. The Author(s).)

Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains poorly defined., Methods: We sequenced and analyzed the genomes of families with diverse phenotypes who were suspected to have a rare monogenic disease and for whom genetic testing had not revealed a diagnosis, as well as the genomes of a replication cohort at an independent clinical center., Results: We sequenced the genomes of 822 families (744 in the initial cohort and 78 in the replication cohort) and made a molecular diagnosis in 218 of 744 families (29.3%). Of the 218 families, 61 (28.0%) - 8.2% of families in the initial cohort - had variants that required genome sequencing for identification, including coding variants, intronic variants, small structural variants, copy-neutral inversions, complex rearrangements, and tandem repeat expansions. Most families in which a molecular diagnosis was made after previous nondiagnostic exome sequencing (63.5%) had variants that could be detected by reanalysis of the exome-sequence data (53.4%) or by additional analytic methods, such as copy-number variant calling, to exome-sequence data (10.8%). We obtained similar results in the replication cohort: in 33% of the families in which a molecular diagnosis was made, or 8% of the cohort, genome sequencing was required, which showed the applicability of these findings to both research and clinical environments., Conclusions: The diagnostic yield of genome sequencing in a large, diverse research cohort and in a small clinical cohort of persons who had previously undergone genetic testing was approximately 8% and included several types of pathogenic variation that had not previously been detected by means of exome sequencing or other techniques. (Funded by the National Human Genome Research Institute and others.)., (Copyright © 2024 Massachusetts Medical Society.)

The introduction of photon-counting detector CT (PCD-CT) marks a remarkable leap in innovation in CT imaging. The new detector technology allows X-rays to be converted directly into an electrical signal without an intermediate step via a scintillation layer and allows the energy of individual photons to be measured. Initial data show high spatial resolution, complete elimination of electronic noise, and steady availability of spectral image data sets. In particular, the new technology shows promise with respect to the imaging of osseous structures. Recently, PCD-CT was implemented in the clinical routine. The aim of this review was to summarize recent studies and to show our first experiences with photon-counting detector technology in the field of musculoskeletal radiology.We performed a literature search using Medline and included a total of 90 articles and reviews that covered recent experimental and clinical experiences with the new technology.In this review, we focus on (1) spatial resolution and delineation of fine anatomic structures, (2) reduction of radiation dose, (3) electronic noise, (4) techniques for metal artifact reduction, and (5) possibilities of spectral imaging. This article provides insight into our first experiences with photon-counting detector technology and shows results and images from experimental and clinical studies. · This review summarizes recent experimental and clinical studies in the field of photon-counting detector CT and musculoskeletal radiology.. · The potential of photon-counting detector technology in the field of musculoskeletal radiology includes improved spatial resolution, reduction in radiation dose, metal artifact reduction, and spectral imaging.. · PCD-CT enables imaging at lower radiation doses while maintaining or even enhancing spatial resolution, crucial for reducing patient exposure, especially in repeated or prolonged imaging scenarios.. · It offers promising results in reducing metal artifacts commonly encountered in orthopedic or dental implants, enhancing the interpretability of adjacent structures in postoperative and follow-up imaging.. · With its ability to routinely acquire spectral data, PCD-CT scans allow for material classification, such as detecting urate crystals in suspected gout or visualizing bone marrow edema, potentially reducing reliance on MRI in certain cases.. Bette S, Risch F, Becker J et al. Photon-counting detector CT - first experiences in the field of musculoskeletal radiology. Fortschr Röntgenstr 2024; DOI 10.1055/a-2312-6914., Competing Interests: The Department of Radiology received research funding from Siemens Healthineers for research in the field of photon-counting CT., (Thieme. All rights reserved.)

The timely and accurate identification of causative agents is crucial for effectively managing fracture-related infections (FRIs). Among various diagnostic methods, the "time to positivity" (TTP) of cultures has emerged as a valuable predictive factor in infectious diseases. While sonication of implants and inoculation of blood culture bottles with sonication fluid have enhanced sensitivity, data on the TTP of this microbiological technique remain limited. Therefore, patients with ICM criteria for confirmed FRI treated at our institution between March 2019 and March 2023 were retrospectively identified and their microbiological records were analyzed. The primary outcome parameter was TTP for different microorganism species cultured in a liquid culture collected from patients with confirmed FRI. A total of 155 sonication fluid samples from 126 patients (average age 57.0 ± 17.4 years, 68.3% males) was analyzed. Positive bacterial detection was observed in 78.7% (122/155) of the liquid culture pairs infused with sonication fluid. Staphylococcus aureus was the most prevalent organism (42.6%). Streptococcus species exhibited the fastest TTP (median 11.9 h), followed by Staphylococcus aureus (median 12.1 h) and Gram-negative bacteria (median 12.5 h), all of which had a 100% detection rate within 48 h after inoculation. Since all Gram-negative pathogens yielded positive culture results within 24 h, it could be discussed if empirical antibiotic therapy could be de-escalated early and limited towards the Gram-positive germ spectrum if no Gram-negative pathogens are detected up to this time point in the context of antibiotic stewardship.

Background: Long-read technologies such as nanopore sequencing provide new opportunities to detect short tandem repeat expansions. Therefore, a DNA extraction method is necessary that minimizes DNA fragmentation and hence allows the identification of large repeat expansions. In this study, an automated magnetic bead-based DNA extraction method and the required EDTA blood storage conditions as well as DNA and sequencing quality were evaluated for their suitability for repeat expansion detection with nanopore sequencing., Methods: DNA was extracted from EDTA blood, and subsequently, its concentration, purity, and integrity were assessed. DNA was then subjected to nanopore sequencing, and quality metrics of the obtained sequencing data were evaluated., Results: DNA extracted from fresh EDTA blood as well as from cooled or frozen EDTA blood revealed high DNA integrity whereas storage at room temperature over 7 days had detrimental effects. After nanopore sequencing, the read length N50 values of approximately 9 kb were obtained, and based on adaptive sampling of samples with a known repeat expansion, repeat expansions up to 10 kb could be detected., Conclusion: The automated magnetic bead-based DNA extraction was sufficient to detect short tandem repeat expansions, omitting the need for high-molecular-weight DNA extraction methods. Therefore, DNA should be extracted either from fresh blood or from blood stored in cooled or frozen conditions. Consequently, this study may help other laboratories to evaluate their DNA extraction method regarding the suitability for detecting repeat expansions with nanopore sequencing., (© 2024 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Purpose: To evaluate magnetic resonance image (MRI) findings in children and adolescents suffering from knee pain without traumatic or physical overload history and to identify potential anatomic risk factors., Material and Methods: A total of 507 MRIs of 6- to 20-year-old patients (251 males; 256 females) were evaluated with regard to detectable pathologies of the knee. The results were compared to a control group without pain ( n = 73; 34 males; 39 females). A binary logistic regression model and t-tests for paired and unpaired samples were used to identify possible risk factors and significant anatomic differences of the study population., Results: In 348 patients (68.6%), at least one pathology was detected. The most commonly detected finding was chondromalacia of the patellofemoral (PF) joint (n = 205; 40.4%). Chondral lesions of the PF joint occurred significantly more often in knee pain patients than in the control group (40% vs. 11.0%; p = 0.001), especially in cases of a patella tilt angle > 5° ( p ≤ 0.001), a bony sulcus angle > 150° ( p = 0.002), a cartilaginous sulcus angle > 150° ( p = 0.012), a lateral trochlear inclination < 11° ( p ≤ 0.001), a lateralised patella ( p = 0.023) and a Wiberg type II or III patella shape ( p = 0.019). Moreover, a larger patella tilt angle ( p = 0.021), a greater bony sulcus angle ( p = 0.042), a larger cartilaginous sulcus angle ( p = 0.038) and a lower value of the lateral trochlear inclination ( p = 0.014) were detected in knee pain patients compared to the reference group., Conclusion: Chondromalacia of the PF joint is frequently observed in children and adolescents suffering from non-overload atraumatic knee pain, whereby a patella tilt angle > 5°, a bony sulcus angle > 150°, a cartilaginous sulcus angle > 150°, a lateral trochlear inclination < 11°, a lateralised patella and a Wiberg type II or III patella shape seem to represent anatomic risk factors.

Introduction: Pediatric polytrauma is a complex condition with unique characteristics and requirements for early clinical care. This study aimed to analyze the injury patterns, early clinical care, and outcomes of pediatric polytrauma patients in a Level I trauma center. The focus was on evaluation between different age groups and the recognition of injuries as potential factors influencing outcomes. Methods: A prospective cohort study model of pediatric polytrauma patients (ISS ≥ 16) was conducted over a 13-year period, stratified by age groups (Group A: 0-5 years; Group B: 6-10 years; Group C: 11-15 years; and Group D: 16-18 years). A comparison of the groups was conducted to examine variations in early clinical care, trauma mechanisms, distribution of affected body regions (as per AIS and ISS criteria), and trauma-related mortality. Additionally, factors contributing to mortality were evaluated. Results: The median age of patients was 16 years, with a male predominance (64.7%). The Injury Severity Score (ISS) varied across age groups, with no significant difference. The 30-day mortality rate was 19.0%, with no significant age-related differences. Trauma mechanisms varied across age groups, with motor vehicle accidents being the most common mechanism in all age groups except 0-5 years, where falls were prevalent. Analysis of injury patterns by AIS body regions indicated that head trauma was a significant predictor of mortality (Hazard Ratio 2.894, p < 0.001), while chest, abdominal, and extremity trauma showed no significant association with mortality. Multiple regression analysis identified the ISS and preclinical GCS as valid predictors of mortality ( p < 0.001 and p = 0.006, respectively). Conclusions: While age-related differences in injury severity and clinical interventions were limited, head trauma emerged as a critical predictor of mortality. Early recognition and management of head injuries are crucial in improving outcomes. Additionally, the ISS and preclinical GCS were identified as valid predictors of mortality, emphasizing the importance of early assessment and resuscitation. A tailored approach to pediatric polytrauma care, considering both age and injury patterns, might contribute to survival benefits in this vulnerable population.

Aims: This study aimed to evaluate the clinical application of the PJI-TNM classification for periprosthetic joint infection (PJI) by determining intraobserver and interobserver reliability. To facilitate its use in clinical practice, an educational app was subsequently developed and evaluated., Methods: A total of ten orthopaedic surgeons classified 20 cases of PJI based on the PJI-TNM classification. Subsequently, the classification was re-evaluated using the PJI-TNM app. Classification accuracy was calculated separately for each subcategory (reinfection, tissue and implant condition, non-human cells, and morbidity of the patient). Fleiss' kappa and Cohen's kappa were calculated for interobserver and intraobserver reliability, respectively., Results: Overall, interobserver and intraobserver agreements were substantial across the 20 classified cases. Analyses for the variable 'reinfection' revealed an almost perfect interobserver and intraobserver agreement with a classification accuracy of 94.8%. The category 'tissue and implant conditions' showed moderate interobserver and substantial intraobserver reliability, while the classification accuracy was 70.8%. For 'non-human cells,' accuracy was 81.0% and interobserver agreement was moderate with an almost perfect intraobserver reliability. The classification accuracy of the variable 'morbidity of the patient' reached 73.5% with a moderate interobserver agreement, whereas the intraobserver agreement was substantial. The application of the app yielded comparable results across all subgroups., Conclusion: The PJI-TNM classification system captures the heterogeneity of PJI and can be applied with substantial inter- and intraobserver reliability. The PJI-TNM educational app aims to facilitate application in clinical practice. A major limitation was the correct assessment of the implant situation. To eliminate this, a re-evaluation according to intraoperative findings is strongly recommended., Competing Interests: D. F. Amanatullah reports grants or contracts from NIH-KL2 and OREF, royalties or licenses from United and Exactech, consulting fees from Stryker, DePuy, Exactech, United, and Medacta, ayment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Medscape, payment for expert testimony from Expert Institute, patents with Arthrology Consulting, Knimble Designs, nSight Surgical, and Stanford University, and stock or stock options in Knimble Designs, nSight Surgical, Recoup Fitness, and Qt Ultrasound, all of which are unrelated to this study., (© 2024 Alt et al.)